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Generalized hypertrichosis

MedGen UID:
479570
Concept ID:
C3277940
Finding
Synonym: Hypertrichosis, generalized
 
HPO: HP:0004554

Definition

Generalized excessive, abnormal hairiness. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Generalized hypertrichosis

Conditions with this feature

Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include hyperopia and/or strabismus, conductive hearing loss, seizures, gastroesophageal reflux, renal anomalies (e.g., hydronephrosis / renal pelviectasis, cysts, and/or agenesis), and genital anomalies (e.g., hypospadias and/or undescended testes).
Cataract-hypertrichosis-intellectual disability syndrome
MedGen UID:
167117
Concept ID:
C0796282
Disease or Syndrome
This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.
Wiedemann-Steiner syndrome
MedGen UID:
340266
Concept ID:
C1854630
Disease or Syndrome
Wiedemann-Steiner syndrome (WSS) is characterized by developmental delay, intellectual disability, and characteristic facial features, with or without additional congenital anomalies. The facial features include thick eyebrows with lateral flare, vertically narrow and downslanted palpebral fissures, widely spaced eyes, long eyelashes, wide nasal bridge, broad nasal tip, thin vermilion of the upper lip, and thick scalp hair. About 60% of affected individuals have hypertrichosis cubiti ("hairy elbows"), which was once thought to be pathognomic for the syndrome, with a majority having hypertrichosis of other body parts. Other clinical features include feeding difficulties, prenatal and postnatal growth restriction, epilepsy, ophthalmologic anomalies, congenital heart defects, hand anomalies (such as brachydactyly and clinodactyly), hypotonia, vertebral anomalies (especially fusion anomalies of the cervical spine), renal and uterine anomalies, immune dysfunction, brain malformations, and dental anomalies.

Professional guidelines

PubMed

Trüeb RM
Am J Clin Dermatol 2002;3(9):617-27. doi: 10.2165/00128071-200203090-00004. PMID: 12444804

Recent clinical studies

Etiology

Sharon E, Levi A, Lapidoth M, Snast I
Lasers Med Sci 2023 Jul 4;38(1):156. doi: 10.1007/s10103-023-03821-2. PMID: 37402025
Balaji P, Balaji SM
Indian J Dent Res 2017 Jul-Aug;28(4):457-460. doi: 10.4103/ijdr.IJDR_367_17. PMID: 28836540
Chen W, Ring J, Happle R
Eur J Dermatol 2015 May-Jun;25(3):223-7. doi: 10.1684/ejd.2015.2529. PMID: 25961852
Douzgou S, Mingarelli R, Dallapiccola B
Clin Dysmorphol 2009 Oct;18(4):205-8. doi: 10.1097/MCD.0b013e32832dc393. PMID: 19625955
Vashi RA, Mancini AJ, Paller AS
Arch Dermatol 2001 Jul;137(7):877-84. PMID: 11453806

Diagnosis

Sharon E, Levi A, Lapidoth M, Snast I
Lasers Med Sci 2023 Jul 4;38(1):156. doi: 10.1007/s10103-023-03821-2. PMID: 37402025
Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y
Am J Med Genet A 2017 Feb;173(2):510-514. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38025. PMID: 27759909
Ishita A, Sujatha GP, Pramod GV, Ashok L
J Indian Soc Pedod Prev Dent 2016 Apr-Jun;34(2):189-91. doi: 10.4103/0970-4388.180452. PMID: 27080973
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785
Vashi RA, Mancini AJ, Paller AS
Arch Dermatol 2001 Jul;137(7):877-84. PMID: 11453806

Therapy

Sharon E, Levi A, Lapidoth M, Snast I
Lasers Med Sci 2023 Jul 4;38(1):156. doi: 10.1007/s10103-023-03821-2. PMID: 37402025
Souza KF, Andrade PFBC, Cassia FF, Castro MCR
An Bras Dermatol 2020 May-Jun;95(3):402-403. Epub 2020 Mar 19 doi: 10.1016/j.abd.2019.08.027. PMID: 32265055Free PMC Article
Farsani TT, Kane MJ, Kane KS
Pediatr Dermatol 2014 Jul-Aug;31(4):520-2. Epub 2014 Jun 11 doi: 10.1111/pde.12329. PMID: 24915767
Trüeb RM
Am J Clin Dermatol 2002;3(9):617-27. doi: 10.2165/00128071-200203090-00004. PMID: 12444804
Vashi RA, Mancini AJ, Paller AS
Arch Dermatol 2001 Jul;137(7):877-84. PMID: 11453806

Prognosis

Domínguez MG, Rivera H, Dávalos-Pulido RM, Dávalos-Rodríguez IP
J Clin Lab Anal 2020 Aug;34(8):e23355. Epub 2020 May 12 doi: 10.1002/jcla.23355. PMID: 32399990Free PMC Article
Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, Neri G
Ital J Pediatr 2015 Aug 5;41:55. doi: 10.1186/s13052-015-0161-3. PMID: 26242548Free PMC Article
Ramirez A, Abril JC, Touza A
J Pediatr Orthop B 2012 Nov;21(6):489-94. doi: 10.1097/BPB.0b013e328355e5ba. PMID: 22751482
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785
Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA
Rev Hosp Clin Fac Med Sao Paulo 2004 Apr;59(2):89-92. Epub 2004 Apr 26 doi: 10.1590/s0041-87812004000200008. PMID: 15122424

Clinical prediction guides

Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y
Am J Med Genet A 2017 Feb;173(2):510-514. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38025. PMID: 27759909

Recent systematic reviews

Sharon E, Levi A, Lapidoth M, Snast I
Lasers Med Sci 2023 Jul 4;38(1):156. doi: 10.1007/s10103-023-03821-2. PMID: 37402025

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